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Article

[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].

Akusherstvo i ginekologiia - 1 Jan 1995

Dzenis I G, Iudina T N, Brykova E K, Bakharev V A, Fanchenko N D

Abstract excerpt

Heterozygotic carriers of 21-hydroxylase deficiency were detected by prolonged ACTH stimulation test. Stepwise discriminant analysis was used for data processing, which helped derive a function: D = 0.052 x X1 + 0.05 x X2 -0.018 x X3 = 0.069, where X1 is 17-hydroxylase concentration 9 h after ACTH infusion, X2 ratio of basel hydrocortisone concentrations to 17-hydroxylase, and X3 ratio of hydrocortisone...

Topics

Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Adult
Alleles
Female
Genetic Carrier Screening
Heterozygote
Humans
Male
Mutation
Steroid 21-Hydroxylase

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Identifiers

PMID: 7762743

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7762743-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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